Canonical Allele Identifier: CA2260769239
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063374_43063375delinsCT , CM000679.2:g.43063374_43063375delinsCT GRCh38
NC_000017.10:g.41215391_41215392delinsCT , CM000679.1:g.41215391_41215392delinsCT GRCh37
NC_000017.9:g.38468917_38468918delinsCT NCBI36
NG_005905.2:g.154609_154610delinsAG , LRG_292:g.154609_154610delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5150-2_5150-1delinsAG ENSP00000417241.2:n.5150-2_5150-1delinsAG
ENST00000470026.6:c.5153-2_5153-1delinsAG ENSP00000419274.2:n.5153-2_5153-1delinsAG
ENST00000473961.6:c.5027-2_5027-1delinsAG ENSP00000420201.2:n.5027-2_5027-1delinsAG
ENST00000476777.6:c.5147-2_5147-1delinsAG ENSP00000417554.2:n.5147-2_5147-1delinsAG
ENST00000477152.6:c.5075-2_5075-1delinsAG ENSP00000419988.2:n.5075-2_5075-1delinsAG
ENST00000478531.6:c.1841-2_1841-1delinsAG ENSP00000420412.2:n.1841-2_1841-1delinsAG
ENST00000489037.2:c.5075-2_5075-1delinsAG ENSP00000420781.2:n.5075-2_5075-1delinsAG
ENST00000493919.6:c.1703-2_1703-1delinsAG ENSP00000418819.2:n.1703-2_1703-1delinsAG
ENST00000494123.6:c.5153-2_5153-1delinsAG ENSP00000419103.2:n.5153-2_5153-1delinsAG
ENST00000497488.2:c.4265-2_4265-1delinsAG ENSP00000418986.2:n.4265-2_4265-1delinsAG
ENST00000618469.2:c.5153-2_5153-1delinsAG ENSP00000478114.2:n.5153-2_5153-1delinsAG
ENST00000634433.2:c.5030-2_5030-1delinsAG ENSP00000489431.2:n.5030-2_5030-1delinsAG
ENST00000644379.2:c.5219-2_5219-1delinsAG ENSP00000496570.2:n.5219-2_5219-1delinsAG
ENST00000644555.2:c.1703-2_1703-1delinsAG ENSP00000494614.2:n.1703-2_1703-1delinsAG
ENST00000652672.2:c.5012-2_5012-1delinsAG ENSP00000498906.2:n.5012-2_5012-1delinsAG
ENST00000484087.6:c.1715-2_1715-1delinsAG ENSP00000419481.2:n.1715-2_1715-1delinsAG
ENST00000357654.9:c.5153-2_5153-1delinsAG MANE Select ENSP00000350283.3:n.5153-2_5153-1delinsAG
ENST00000471181.7:c.5216-2_5216-1delinsAG ENSP00000418960.2:n.5216-2_5216-1delinsAG
ENST00000644379.1:c.1540-2_1540-1delinsAG
ENST00000352993.7:c.1727-2_1727-1delinsAG ENSP00000312236.5:n.1727-2_1727-1delinsAG
ENST00000357654.7:c.5153-2_5153-1delinsAG ENSP00000350283.3:n.5153-2_5153-1delinsAG
ENST00000461221.5:c.*4936-2_*4936-1delinsAG ENSP00000418548.1:n.*4936-2_*4936-1delinsAG
ENST00000468300.5:c.1841-2_1841-1delinsAG ENSP00000417148.1:n.1841-2_1841-1delinsAG
ENST00000471181.6:c.5216-2_5216-1delinsAG ENSP00000418960.2:n.5216-2_5216-1delinsAG
ENST00000478531.5:c.1841-2_1841-1delinsAG ENSP00000420412.1:n.1841-2_1841-1delinsAG
ENST00000484087.5:c.1466-2_1466-1delinsAG ENSP00000419481.1:n.1466-2_1466-1delinsAG
ENST00000491747.6:c.1841-2_1841-1delinsAG ENSP00000420705.2:n.1841-2_1841-1delinsAG
ENST00000493795.5:c.5012-2_5012-1delinsAG ENSP00000418775.1:n.5012-2_5012-1delinsAG
ENST00000493919.5:c.1703-2_1703-1delinsAG ENSP00000418819.1:n.1703-2_1703-1delinsAG
ENST00000586385.5:c.83-2_83-1delinsAG ENSP00000465818.1:n.83-2_83-1delinsAG
ENST00000591534.5:c.626-2_626-1delinsAG ENSP00000467329.1:n.626-2_626-1delinsAG
ENST00000591849.5:c.-98-13185_-98-13184delinsAG ENSP00000465347.1:n.-98-13185_-98-13184delinsAG
NM_007294.3:c.5153-2_5153-1delinsAG , LRG_292t1:c.5153-2_5153-1delinsAG NP_009225.1:n.5153-2_5153-1delinsAG
NM_007297.3:c.5012-2_5012-1delinsAG NP_009228.2:n.5012-2_5012-1delinsAG
NM_007298.3:c.1841-2_1841-1delinsAG NP_009229.2:n.1841-2_1841-1delinsAG
NM_007299.3:c.1841-2_1841-1delinsAG NP_009230.2:n.1841-2_1841-1delinsAG
NM_007300.3:c.5216-2_5216-1delinsAG NP_009231.2:n.5216-2_5216-1delinsAG
NR_027676.1:n.5289-2_5289-1delinsAG
NM_007294.4:c.5153-2_5153-1delinsAG MANE Select NP_009225.1:n.5153-2_5153-1delinsAG
NM_007297.4:c.5012-2_5012-1delinsAG NP_009228.2:n.5012-2_5012-1delinsAG
NM_007299.4:c.1841-2_1841-1delinsAG NP_009230.2:n.1841-2_1841-1delinsAG
NM_007300.4:c.5216-2_5216-1delinsAG NP_009231.2:n.5216-2_5216-1delinsAG
NR_027676.2:n.5330-2_5330-1delinsAG